Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0344529
Disease: Cornea plana
Cornea plana 		22 0 9 9.3E-02 0 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		82 0 14 9.2E-02 0 0
CUI: C0332606
Disease: Elfin facies
Elfin facies 		11 0 8 9.2E-02 0 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		23 0 9 9.2E-02 0 0
CUI: C4025362
Disease: Abnormality of the gastric mucosa
Abnormality of the gastric mucosa 		12 0 8 9.1E-02 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 12 15 9.0E-02 1 7.1E-02
CUI: C0266061
Disease: Open Bite
Open Bite 		38 0 10 8.9E-02 0 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		26 0 9 8.9E-02 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 9 8.7E-02 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 9 8.7E-02 0 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		41 0 10 8.7E-02 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 21 8.6E-02 0 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		17 0 8 8.6E-02 0 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		17 0 8 8.6E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 22 8.6E-02 0 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		94 0 14 8.5E-02 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 24 8.4E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 27 8.4E-02 0 0
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		46 0 10 8.3E-02 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 10 8.3E-02 0 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		20 0 8 8.3E-02 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 7 8.3E-02 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 7 8.3E-02 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 7 8.3E-02 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 9 8.3E-02 0 0